| view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(475): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01516.hp1 |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0086 | a0001c0001t0035g0112 a0001c0001t0086g0111 |
2 | 3 | 0.6667 | 482 | c.162 others(503): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| COL19A1_chr6_69861556_70217468 | 69920974 | G | GTATATTC others(475): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0072 | 1 | 4 | 0.2500 | 482 | c.267 others(499): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(475): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0014 | 1 | 83 | 0.0120 | 482 | c.724 others(501): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
| DOCK3_chr3_50669927_51389198 | 51015808 | C | CTATATAT others(475): Show |
intron_variant | MODIFIER | HG01993.hp2 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0014 |
2 | 16 | 0.1250 | 482 | c.316 others(501): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 400472 | C | CCACCTCC others(475): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0048 | a0048c0054 | a0048c0054t0002 | a0048c0054t0002g0181 | 1 | 68 | 0.0147 | 482 | c.323 others(501): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| DPEP1_chr16_89608642_89643433 | 89619474 | C | CCTGCAGC others(475): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 210 | 0.0048 | 482 | c.-10 others(501): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| DPP6_chr7_154047398_154899285 | 154061947 | A | ACCCCCAA others(475): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0002 | a0002c0002t0029 | a0002c0002t0029g0003 | 1 | 36 | 0.0278 | 482 | c.243 others(499): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | chr7 | TogoVar | |||||||
| DPP6_chr7_154047398_154899285 | 154062407 | G | GGGAGGCA others(475): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0013 | a0002c0013t0018 | a0002c0013t0018g0026 | 1 | 29 | 0.0345 | 482 | c.243 others(499): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| DPP6_chr7_154047398_154899285 | 154062407 | G | GGGAGGCA others(475): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG01071.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0017others(3): Show | a0001c0001t0005a0001c0001t0016a0001c0007t0005others(5): Show | a0001c0001t0005g0032 a0001c0001t0016g0005 a0001c0007t0005g0038 others(5): Show |
8 | 36 | 0.2222 | 482 | c.243 others(499): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| DPP6_chr7_154047398_154899285 | 154062407 | G | GGGAGGCA others(475): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0005 | a0002c0005t0024 | a0002c0005t0024g0031 | 1 | 29 | 0.0345 | 482 | c.243 others(499): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| EGFR_chr7_55014017_55216628 | 55167217 | C | CGGTGGTG others(475): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0039 | a0001c0039t0006 | a0001c0039t0006g0006 | 1 | 103 | 0.0097 | 482 | c.188 others(501): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| EGFR_chr7_55014017_55216628 | 55167217 | C | CGGTGGTG others(475): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02818.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0022a0001c0003t0001 | a0001c0001t0001g0245 a0001c0001t0022g0014 a0001c0001t0022g0246 others(1): Show |
4 | 106 | 0.0377 | 482 | c.188 others(501): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| EGFR_chr7_55014017_55216628 | 55167217 | C | CGGTGGTG others(475): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0130 | 1 | 103 | 0.0097 | 482 | c.188 others(501): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| EGFR_chr7_55014017_55216628 | 55167217 | C | CGGTGGTG others(475): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02723.hp2 HG03704.hp1 others(6): Show |
a0002 | a0002c0008a0002c0017a0002c0018others(1): Show | a0002c0008t0006a0002c0008t0052a0002c0008t0062others(4): Show | a0002c0008t0006g0248 a0002c0008t0052g0212 a0002c0008t0062g0172 others(6): Show |
9 | 111 | 0.0811 | 482 | c.188 others(501): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| EGFR_chr7_55014017_55216628 | 55167217 | C | CGGTGGTG others(475): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0002 | a0002c0002t0042 | a0002c0002t0042g0039 | 1 | 103 | 0.0097 | 482 | c.188 others(501): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| EGFR_chr7_55014017_55216628 | 55167258 | T | TGGTGTTG others(475): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0144 | 1 | 245 | 0.0041 | 482 | c.188 others(501): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| EGFR_chr7_55014017_55216628 | 55167258 | T | TGGTGTTG others(475): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0013 | a0001c0013t0024 | a0001c0013t0024g0123 | 1 | 245 | 0.0041 | 482 | c.188 others(501): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| EGFR_chr7_55014017_55216628 | 55167557 | A | ATGGTGGT others(475): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG01496.hp1 others(7): Show |
a0001 | a0001c0014a0001c0019a0001c0030others(5): Show | a0001c0014t0008a0001c0014t0020a0001c0019t0006others(6): Show | a0001c0014t0008g0175 a0001c0014t0020g0084 a0001c0019t0006g0095 others(7): Show |
10 | 244 | 0.0410 | 482 | c.188 others(501): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| EIPR1_chr2_3183970_3382818 | 3315770 | T | TACCACCA others(475): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0217 | 1 | 52 | 0.0192 | 482 | c.259 others(501): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
| FAM240C_chr2_241888988_241905464 | 241896810 | T | TGTTGGGG others(475): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0029 |
2 | 11 | 0.1818 | 482 | c.161 others(497): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
| FBXO47_chr17_38931432_38972403 | 38946612 | A | ATAAAAAT others(475): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0012 | 1 | 341 | 0.0029 | 482 | c.617 others(499): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
| FOXK2_chr17_82514732_82609602 | 82586256 | G | GAGGGGAA others(475): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0241 | 1 | 215 | 0.0047 | 482 | c.157 others(497): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
| GAK_chr4_844277_937316 | 927060 | C | CCGCACCC others(475): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0014 | 1 | 207 | 0.0048 | 482 | c.145 others(499): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805392 | C | CGCAGGCC others(475): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 | 1 | 247 | 0.0040 | 482 | c.*12 others(493): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1106 | chr2 | TogoVar | |||||||
| GAS6_chr13_113815549_113869076 | 113841967 | G | GCCCCACA others(475): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 140 | 0.0071 | 482 | c.344 others(499): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4/14 | chr13 | TogoVar | |||||||
| GFPT2_chr5_180295698_180358336 | 180299979 | A | AATGGTGG others(475): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0177 | 1 | 248 | 0.0040 | 482 | c.*15 others(493): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 718 | chr5 | TogoVar | |||||||
| GPR173_chrX_53043789_53085615 | 53074115 | T | TATATATA others(475): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0059 | 1 | 169 | 0.0059 | 482 | c.-97 others(499): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GSE1_chr16_85608322_85681200 | 85653214 | T | TCCTCCCC others(475): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0067 | 1 | 175 | 0.0057 | 482 | c.427 others(499): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106709734 | G | GTTATATA others(475): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0049 | 1 | 250 | 0.0040 | 482 | c.183 others(501): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
| GUCY1A2_chr11_106669019_107023476 | 106709734 | G | GTTATATA others(475): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0119 | 1 | 250 | 0.0040 | 482 | c.183 others(501): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33322940 | T | TATATATA others(475): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0076 | 1 | 315 | 0.0032 | 482 | c.-21 others(493): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2029 | chr21 | TogoVar | |||||||
| INPP5A_chr10_132532787_132788480 | 132771711 | C | CATGAAGA others(475): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 188 | 0.0053 | 482 | c.977 others(499): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(475): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 11 | 0.0909 | 482 | c.10- others(499): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(475): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 11 | 0.0909 | 482 | c.10- others(499): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| JAKMIP3_chr10_132060946_132189858 | 132173126 | C | CCCTCTCT others(475): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0017 | a0001c0017t0005 | a0001c0017t0005g0079 | 1 | 56 | 0.0179 | 482 | c.*11 others(503): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
| JAKMIP3_chr10_132060946_132189858 | 132173126 | C | CTCTCTCT others(475): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0021 | 1 | 56 | 0.0179 | 482 | c.*11 others(503): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| JAKMIP3_chr10_132060946_132189858 | 132173126 | C | CTCTCTCT others(475): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0003 | a0003c0021 | a0003c0021t0001 | a0003c0021t0001g0032 | 1 | 56 | 0.0179 | 482 | c.*11 others(503): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(475): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 5 | 0.2000 | 482 | c.-41 others(497): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| KCNJ6_chr21_37602373_37921457 | 37707711 | T | TAGTGTGT others(475): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02145.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0068a0001c0002t0013 | a0001c0001t0068g0098 a0001c0002t0013g0003 |
2 | 27 | 0.0741 | 482 | c.946 others(499): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
| KCNJ6_chr21_37602373_37921457 | 37707711 | T | TAGTGTGT others(475): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0145 a0001c0001t0009g0165 |
2 | 27 | 0.0741 | 482 | c.946 others(499): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
| KCNJ6_chr21_37602373_37921457 | 37707711 | T | TAGTGTGT others(475): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0048 | 1 | 26 | 0.0385 | 482 | c.946 others(499): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
| KCNJ6_chr21_37602373_37921457 | 37707711 | T | TAGTGTGT others(475): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0140 | 1 | 26 | 0.0385 | 482 | c.946 others(499): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
| KCNJ6_chr21_37602373_37921457 | 37707711 | T | TAGTGTGT others(475): Show |
intron_variant | MODIFIER | NA19043.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0165a0001c0001t0166 | a0001c0001t0165g0056 a0001c0001t0166g0171 |
2 | 27 | 0.0741 | 482 | c.946 others(499): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
| KCNJ6_chr21_37602373_37921457 | 37707711 | T | TAGTGTGT others(475): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0139a0001c0001t0141 | a0001c0001t0139g0031 a0001c0001t0141g0100 |
2 | 27 | 0.0741 | 482 | c.946 others(499): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
| KCNJ6_chr21_37602373_37921457 | 37707711 | T | TAGTGTGT others(475): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG01074.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0115a0001c0003t0045a0001c0003t0114others(5): Show | a0001c0001t0115g0131 a0001c0003t0045g0082 a0001c0003t0114g0071 others(6): Show |
9 | 34 | 0.2647 | 482 | c.946 others(499): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
| KCNJ6_chr21_37602373_37921457 | 37707711 | T | TAGTGTGT others(475): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0188 | a0001c0001t0188g0198 | 1 | 26 | 0.0385 | 482 | c.946 others(499): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
| KCNK2_chr1_215077737_215242090 | 215209545 | A | ATATAAAT others(475): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0171 | 1 | 256 | 0.0039 | 482 | c.963 others(501): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KLHL23_chr2_169728832_169756878 | 169738992 | T | TCTCCCCC others(475): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0052 | 1 | 134 | 0.0075 | 482 | c.121 others(501): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| MBD3L3_chr19_7051207_7063676 | 7061827 | G | GAATATAA others(475): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 NA19058.hp1 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 241 | 0.0124 | 482 | c.-32 others(493): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3152 | chr19 | TogoVar | |||||||
| MLPH_chr2_237482251_237560322 | 237543370 | G | GAGGGGAC others(475): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0183 | 1 | 270 | 0.0037 | 482 | c.153 others(499): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar |